Nature Search

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

Laurence Cuisset
Joost PH Drenth
Marc Delpech
Research20 Apr 2001
European Journal of Human Genetics

Volume: 9, P: 260-266
ACKR3 regulates platelet activation and ischemia-reperfusion tissue injury

ACKR3 is a critical regulator of platelet-mediated thrombosis and organ injury following ischemia/reperfusion. Platelet ACKR3 surface expression is independently associated with all-cause mortality in patients with cardiovascular diseases.

Anne-Katrin Rohlfing
Kyra Kolb
Meinrad Gawaz
ResearchOpen Access05 Apr 2022
Nature Communications

Volume: 13, P: 1-20
VCF1 is a p97/VCP cofactor promoting recognition of ubiquitylated p97-UFD1-NPL4 substrates

p97/VCP, a nexus of the ubiquitin system, recognizes and unfolds ubiquitylated substrates via multiple cofactors. Here, the authors identify VCF1, a nuclear cofactor promoting p97 recruitment to, and proteasomal degradation of, ubiquitylated targets.

Ann Schirin Mirsanaye
Saskia Hoffmann
Niels Mailand
ResearchOpen Access19 Mar 2024
Nature Communications

Volume: 15, P: 1-16
Low variability of the Atlantic Meridional Overturning Circulation throughout the Holocene

Combining sedimentary Pa/Th with ESM simulations allowed quantitative estimates of past AMOC largescale strengths. The AMOC reinvigorated after the last glacial, weakened during meltwater events and reached its stable state after ~6.5 ka BP.

Lukas Gerber
Jörg Lippold
Frerk Pöppelmeier
ResearchOpen Access22 Jul 2025
Nature Communications

Volume: 16, P: 1-12
Apoptotic brown adipocytes enhance energy expenditure via extracellular inosine

Untargeted metabolomics demonstrate that apoptotic brown adipocytes release a specific pattern of metabolites with purine metabolites being highly enriched, and inosine is identified as a metabolite released during apoptosis regulating thermogenic fat and counteracting obesity.

Birte Niemann
Saskia Haufs-Brusberg
Alexander Pfeifer
ResearchOpen Access05 Jul 2022
Nature

Volume: 609, P: 361-368
Cyclin F suppresses B-Myb activity to promote cell cycle checkpoint control

Cells respond to DNA damage by activating cell cycle checkpoints. Here, the authors show that the F-box protein cyclin F suppresses the B-Myb/cyclin A pathway to ensure a DNA damage-induced checkpoint response in the G2 phase of the cell cycle.

Ditte Kjærsgaard Klein
Saskia Hoffmann
Claus Storgaard Sørensen
Research05 Jan 2015
Nature Communications

Volume: 6, P: 1-11
Single-cell multiomic dissection of response and resistance to chimeric antigen receptor T cells against BCMA in relapsed multiple myeloma

Merz and colleagues perform single-cell multiomic analysis of mononuclear cells isolated from individuals receiving BCMA-directed CAR T cell therapy for myeloma and show that nonresponders are characterized by an immune-suppressive microenvironment.

Michael Rade
Nora Grieb
Maximilian Merz
Research19 Apr 2024
Nature Cancer

Volume: 5, P: 1318-1333
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Genome-wide association analyses of 41,917 bipolar disorder cases and 371,549 controls of European ancestry provide new insights into the etiology of this disorder and identify novel therapeutic leads and potential opportunities for drug repurposing.

Niamh Mullins
Andreas J. Forstner
Ole A. Andreassen
Research17 May 2021
Nature Genetics

Volume: 53, P: 817-829
Activation of the ATR kinase by the RPA-binding protein ETAA1

Bass et al. and Haahr et al. now identify ETAA1 as a critical replication stress response factor that interacts with DNA damage response proteins and activates ATR to maintain genomic stability.

Peter Haahr
Saskia Hoffmann
Niels Mailand
Research10 Oct 2016
Nature Cell Biology

Volume: 18, P: 1196-1207
Concerted SUMO-targeted ubiquitin ligase activities of TOPORS and RNF4 are essential for stress management and cell proliferation

Liu et al. reveal that human TOPORS is a SUMO1-selective SUMO-targeted ubiquitin ligase (STUbL). The parallel action of TOPORS and the STUbL RNF4 defines a general mechanistic principle governing pathways driven by direct SUMO–ubiquitin crosstalk.

Julio C. Y. Liu
Leena Ackermann
Niels Mailand
ResearchOpen Access22 Apr 2024
Nature Structural & Molecular Biology

Volume: 31, P: 1355-1367
Genetic architecture of subcortical brain structures in 38,851 individuals

Genome-wide analysis identifies variants associated with the volume of seven different subcortical brain regions defined by magnetic resonance imaging. Implicated genes are involved in neurodevelopmental and synaptic signaling pathways.

Claudia L. Satizabal
Hieab H. H. Adams
M. Arfan Ikram
Research21 Oct 2019
Nature Genetics

Volume: 51, P: 1624-1636
SCF^{Cyclin F}-dependent degradation of CDC6 suppresses DNA re-replication

To ensure genome stability, cells need to restrict DNA replication to once per cell cycle. Here the authors show that Cyclin F interacts with and targets the licensing factor CDC6 for degradation, preventing re-firing of replication origins.

David Walter
Saskia Hoffmann
Claus Storgaard Sørensen
ResearchOpen Access28 Jan 2016
Nature Communications

Volume: 7, P: 1-10
T-bet⁺ B cells are activated by and control endogenous retroviruses through TLR-dependent mechanisms

Endogenous retroviruses (ERV) can induce immune responses and the control of these viruses uses immune mechanisms also involved in autoimmunity. Here, the authors characterize the control of ERVs in mice and show age-associated B cell control and nucleic acid sensing TLR pathway involvement.

Eileen Rauch
Timm Amendt
Philipp Yu
ResearchOpen Access09 Feb 2024
Nature Communications

Volume: 15, P: 1-19
Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept

The authors defined a roadmap for investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders. Their proof-of-concept study using the largest available common variant data sets for schizophrenia and volumes of several (mainly subcortical) brain structures did not find evidence of genetic overlap.

Barbara Franke
Jason L Stein
Patrick F Sullivan
Research01 Feb 2016
Nature Neuroscience

Volume: 19, P: 420-431
Temporal morphogen gradient-driven neural induction shapes single expanded neuroepithelium brain organoids with enhanced cortical identity

PSC-brain organoids are typically formed by static medium switches. Here, authors show that a temporal morphogen gradient during neural induction allows the formation of well-specified cortical organoids with a self-organized single neuroepithelium.

Anna Pagliaro
Roxy Finger
Benedetta Artegiani
ResearchOpen Access28 Nov 2023
Nature Communications

Volume: 14, P: 1-16
Correlative Study of Enhanced Excitonic Emission in ZnO Coated with Al Nanoparticles using Electron and Laser Excitation

Saskia Fiedler
Laurent O. Lee Cheong Lem
Matthew R. Phillips
ResearchOpen Access13 Feb 2020
Scientific Reports

Volume: 10, P: 1-9
Histone H1 couples initiation and amplification of ubiquitin signalling after DNA damage

At the initiation of DNA double-strand break repair, a number of ubiquitylation events occur; here, the RNF8 ubiquitin E3 ligase and the ubiquitin-conjugating E2 enzyme, UBC13, are shown to primarily modify H1-type linker histones, via a K63 linkage.

Tina Thorslund
Anita Ripplinger
Niels Mailand
Research21 Oct 2015
Nature

Volume: 527, P: 389-393
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Sarah von Spiczak, Holger Lerche and colleagues identify mutations in GRIN2A that cause idiopathic focal epilepsy with rolandic spikes.

Johannes R Lemke
Dennis Lal
Sarah von Spiczak
Research11 Aug 2013
Nature Genetics

Volume: 45, P: 1067-1072
Online prediction of optimal deep brain stimulation contacts from local field potentials in Parkinson’s disease

Marjolein Muller
Stefano Scafa
M. Fiorella Contarino
ResearchOpen Access08 Aug 2025
npj Parkinson's Disease

Volume: 11, P: 1-11
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Dominic Lenz
Desirée E. C. Smith
Christian Staufner
Research23 Jul 2020
Genetics in Medicine

Volume: 22, P: 1863-1873
Common genetic variants influence human subcortical brain structures

Genome-wide association studies are used to identify common genetic variants that affect the structure of selected subcortical regions of the human brain; their identification provides insight into the causes of variability in brain development and may help to determine mechanisms of neuropsychiatric dysfunction.

Derrek P. Hibar
Jason L. Stein
Sarah E. Medland
Research21 Jan 2015
Nature

Volume: 520, P: 224-229
Adenosine activates brown adipose tissue and recruits beige adipocytes via A_2A receptors

Cold exposure activates brown adipose tissue (BAT) through the sympathetic nervous system, and previous studies have reported inhibitory effects of the purinergic transmitter adenosine in BAT from hamster or rat; here adenosine/A_2A signalling is shown to be involved in sympathetic activation of human and murine brown adipocytes to allow protection of mice from diet-induced obesity.

Thorsten Gnad
Saskia Scheibler
Alexander Pfeifer
Research15 Oct 2014
Nature

Volume: 516, P: 395-399
Cellular dynamics following CAR T cell therapy are associated with response and toxicity in relapsed/refractory myeloma

Luise Fischer
Nora Grieb
Maximilian Merz
ResearchOpen Access06 Jan 2024
Leukemia

Volume: 38, P: 372-382
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Matias Wagner
Jonathan Lévy
Thomas Opladen
Research26 Feb 2020
Genetics in Medicine

Volume: 22, P: 1061-1068
Low serum neutralizing anti-SARS-CoV-2 S antibody levels in mildly affected COVID-19 convalescent patients revealed by two different detection methods

Berislav Bošnjak
Saskia Catherina Stein
Reinhold Förster
ResearchOpen Access02 Nov 2020
Cellular & Molecular Immunology

Volume: 18, P: 936-944
Machine-learning based patient classification using Hepatitis B virus full-length genome quasispecies from Asian and European cohorts

Alan J. Mueller-Breckenridge
Fernando Garcia-Alcalde
Bart L. Haagmans
ResearchOpen Access11 Dec 2019
Scientific Reports

Volume: 9, P: 1-12
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Christian Staufner
Bianca Peters
Dominic Lenz
Research25 Nov 2019
Genetics in Medicine

Volume: 22, P: 610-621
A mind-brain-body dataset of MRI, EEG, cognition, emotion, and peripheral physiology in young and old adults

Anahit Babayan
Miray Erbey
Arno Villringer
ResearchOpen Access12 Feb 2019
Scientific Data

Volume: 6, P: 1-21
Compellingly high SARS-CoV-2 susceptibility of Golden Syrian hamsters suggests multiple zoonotic infections of pet hamsters during the COVID-19 pandemic

Claudia Blaurock
Angele Breithaupt
Anne Balkema-Buschmann
ResearchOpen Access05 Sept 2022
Scientific Reports

Volume: 12, P: 1-12
Improving clinical paediatric research and learning from COVID-19: recommendations by the Conect4Children expert advice group

Athimalaipet V. Ramanan
Neena Modi
Zorica Zivkoviz
ResearchOpen Access07 Jun 2021
Pediatric Research

Volume: 91, P: 1069-1077
Polygenic risk for neuropsychiatric disease and vulnerability to abnormal deep grey matter development

Harriet Cullen
Michelle L. Krishnan
A. David Edwards
ResearchOpen Access13 Feb 2019
Scientific Reports

Volume: 9, P: 1-8
Trends in incidence, prevalence, and survival of breast cancer in the United Kingdom from 2000 to 2021

Nicola L. Barclay
Edward Burn
Danielle Newby
ResearchOpen Access17 Aug 2024
Scientific Reports

Volume: 14, P: 1-16
Identification of HCV Resistant Variants against Direct Acting Antivirals in Plasma and Liver of Treatment Naïve Patients

V. Stalin Raj
Gadissa Bedada Hundie
Bart L. Haagmans
ResearchOpen Access05 Jul 2017
Scientific Reports

Volume: 7, P: 1-10
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

Cornelis Blauwendraat
Carlo Wilke
Matthis Synofzik
ResearchOpen Access27 Jul 2017
Genetics in Medicine

Volume: 20, P: 240-249

Search

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

ACKR3 regulates platelet activation and ischemia-reperfusion tissue injury

VCF1 is a p97/VCP cofactor promoting recognition of ubiquitylated p97-UFD1-NPL4 substrates

Low variability of the Atlantic Meridional Overturning Circulation throughout the Holocene

Apoptotic brown adipocytes enhance energy expenditure via extracellular inosine

Cyclin F suppresses B-Myb activity to promote cell cycle checkpoint control

Single-cell multiomic dissection of response and resistance to chimeric antigen receptor T cells against BCMA in relapsed multiple myeloma

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Activation of the ATR kinase by the RPA-binding protein ETAA1

Concerted SUMO-targeted ubiquitin ligase activities of TOPORS and RNF4 are essential for stress management and cell proliferation

Genetic architecture of subcortical brain structures in 38,851 individuals

SCF^{Cyclin F}-dependent degradation of CDC6 suppresses DNA re-replication

T-bet⁺ B cells are activated by and control endogenous retroviruses through TLR-dependent mechanisms

Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept

Temporal morphogen gradient-driven neural induction shapes single expanded neuroepithelium brain organoids with enhanced cortical identity

Correlative Study of Enhanced Excitonic Emission in ZnO Coated with Al Nanoparticles using Electron and Laser Excitation

Histone H1 couples initiation and amplification of ubiquitin signalling after DNA damage

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Online prediction of optimal deep brain stimulation contacts from local field potentials in Parkinson’s disease

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Common genetic variants influence human subcortical brain structures

Adenosine activates brown adipose tissue and recruits beige adipocytes via A_2A receptors

Cellular dynamics following CAR T cell therapy are associated with response and toxicity in relapsed/refractory myeloma

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Low serum neutralizing anti-SARS-CoV-2 S antibody levels in mildly affected COVID-19 convalescent patients revealed by two different detection methods

Machine-learning based patient classification using Hepatitis B virus full-length genome quasispecies from Asian and European cohorts

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

A mind-brain-body dataset of MRI, EEG, cognition, emotion, and peripheral physiology in young and old adults

Compellingly high SARS-CoV-2 susceptibility of Golden Syrian hamsters suggests multiple zoonotic infections of pet hamsters during the COVID-19 pandemic

Improving clinical paediatric research and learning from COVID-19: recommendations by the Conect4Children expert advice group

Polygenic risk for neuropsychiatric disease and vulnerability to abnormal deep grey matter development

Trends in incidence, prevalence, and survival of breast cancer in the United Kingdom from 2000 to 2021

Identification of HCV Resistant Variants against Direct Acting Antivirals in Plasma and Liver of Treatment Naïve Patients

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

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